Variant report

Variant	rs10220411
Chromosome Location	chr14:69452088-69452089
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69444480..69448672-chr14:69452065..69455557,6	K562	blood:
2	chr14:69444412..69449535-chr14:69450683..69455557,7	K562	blood:
3	chr14:69450662..69453192-chr14:69462970..69464773,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072110	Chromatin interaction
ENSG00000259062	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12432480	1.00[CHB][hapmap]
rs1275202	1.00[CHB][hapmap]
rs1400194	1.00[CHB][hapmap]
rs242093	1.00[CHB][hapmap]
rs3809393	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10220411	ACTN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69447000-69471400	Weak transcription	Esophagus	oesophagus
2	chr14:69447200-69453000	Weak transcription	K562	blood
3	chr14:69447400-69454400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:69448000-69453000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr14:69448400-69453000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr14:69448400-69453400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:69448400-69454400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:69448800-69454000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr14:69449000-69454600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:69449200-69454400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:69449200-69454400	Weak transcription	NHEK	skin
12	chr14:69449200-69458400	Weak transcription	HUVEC	blood vessel
13	chr14:69449400-69452200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:69449400-69453000	Weak transcription	Aorta	Aorta
15	chr14:69449400-69454000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:69449400-69454400	Weak transcription	HMEC	breast
17	chr14:69449400-69454600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:69450000-69452800	Weak transcription	HSMM	muscle
19	chr14:69450000-69453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:69450000-69454200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:69450000-69454400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:69450000-69454400	Weak transcription	Pancreas	Pancrea
23	chr14:69450000-69454600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr14:69450000-69455400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:69450200-69453000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:69450200-69455200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:69450400-69453400	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:69451000-69454400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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